P23R (p.Pro23Arg) variant of SETD2 (Q9BYW2)
P23R (p.Pro23Arg) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs892374525
- ClinGen CA352512333
- ClinVar RCV001066060
- ClinVar RCV005051853
- Uncertain significance
- SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowt
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.25
- AlphaMissense 0.07
- MetaLR 0.48
- MetaSVM -0.39
- CADD 24.20
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (SETD2-related neurodevelopmental disorder without or with macroc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 6.7e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.316
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)